Canonical Allele Identifier: CA414447516

Gene: F9

Linked Data

• gnomAD v4: X-139562041-C-G
• MyVariant Identifiers: chrX:g.138644200C>G (hg19) ; chrX:g.139562041C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139562041C>G , CM000685.2:g.139562041C>G	GRCh38
NC_000023.10:g.138644200C>G , CM000685.1:g.138644200C>G	GRCh37
NC_000023.9:g.138471866C>G	NCBI36
NG_007994.1:g.36306C>G , LRG_556:g.36306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1356C>G MANE Select	ENSP00000218099.2:p.Asn452Lys
ENST00000643157.1:n.1723+300C>G
ENST00000218099.6:c.1356C>G	ENSP00000218099.2:p.Asn452Lys
ENST00000394090.2:c.1242C>G	ENSP00000377650.2:p.Asn414Lys
NM_000133.3:c.1356C>G , LRG_556t1:c.1356C>G	NP_000124.1:p.Asn452Lys
NM_001313913.1:c.1242C>G	NP_001300842.1:p.Asn414Lys
XM_005262397.3:c.1227C>G	XP_005262454.1:p.Asn409Lys
XM_005262397.4:c.1227C>G	XP_005262454.1:p.Asn409Lys
NM_000133.4:c.1356C>G MANE Select	NP_000124.1:p.Asn452Lys
NM_001313913.2:c.1242C>G	NP_001300842.1:p.Asn414Lys